• Battafarano, G., et al. Emma, F. Taranta, A. Del Fattore, A. Bones/Disease Models

Intrinsic Bone Defects in Cystinotic Mice. Am J Pathol, 2019

• Bone complication have been reported in cystinosis patients, where bone strength and thickness are decreased. In this study it was determined that bone defects in cystinotic mice are a result of dysfunction in bone remodelling and not renal loss of bone minerals due to Fanconi syndrome. The cystinotic mice show decreased bone density and volume. Blood markers that quantify bone remodelling activity were low. When the bones of the cystinotic mice were studies closely, impaired osteoblasts and osteoclasts function was revealed, which results in reduced bone remodelling activity.

Grants/Funding: Cystinosis Research Foundation and Italian Ministry of Healthy Ricerca Corrente